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Gene ETV6 FGFR1
Variant ETV6 - FGFR1
Impact List fusion
Protein Effect gain of function - predicted
Gene Variant Descriptions ETV6-FGFR1 results from the fusion of ETV6 (also referred to as TEL) and FGFR1 (PMID: 21764904), and demonstrates transforming ability in cell culture (PMID: 20338520) and therefore, is predicted to confer a gain of function.
Associated Drug Resistance

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No Variant Reference Transcript is Available.
No transcript is Available.

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ETV6 - FGFR1 Advanced Solid Tumor sensitive AZD4547 Preclinical - Cell culture Actionable In a preclinical study, treatment with AZD4547 decreased Myc expression and inhibited growth of transformed cells expressing ETV6-FGFR1 (TEL-FGFR1) in culture (PMID: 27401245). 27401245
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FGFR1 act mut Advanced Solid Tumor sensitive Dovitinib Preclinical Actionable In a preclinical study, Dovitinib (TKI258) inhibited receptor phosphorylation and cell proliferation in transformed cells expressing constitutively active FGFR1 in culture (PMID: 22238366). 22238366
FGFR1 act mut Advanced Solid Tumor predicted - sensitive Erdafitinib Phase I Actionable In a Phase I trial, Balversa (erdafitinib) treatment resulted in stable disease in 70% (16/23) and partial response in 22% (5/23) of patients with advanced solid tumors harboring FGFR 1-4 activating mutations (including amplifications, mutations and translocations), while no antitumor activity was observed in patients with unknown or no known changes in FGFR (PMID: 26324363; NCT01703481). 26324363
FGFR1 act mut Advanced Solid Tumor sensitive Debio 1347 Phase I Actionable In a Phase I trial, Debio 1347 (CH5183284) dosing regimen has been determined in solid tumor patients with activating FGFR1 alterations (JCO, Vol 33, No 15_suppl (May 20 Supplement), 2015: 2540). detail...
FGFR1 act mut Advanced Solid Tumor sensitive Ponatinib Preclinical Actionable In a preclinical study, Iclusig (ponatinib) inhibited receptor phosphorylation and cell growth in transformed cells expressing constitutively active FGFR1 in culture (PMID: 22238366). 22238366
FGFR1 act mut Advanced Solid Tumor no benefit Brivanib Preclinical Actionable In a preclinical study, Brivanib (BMS-540215) did not inhibit receptor phosphorylation and cell proliferation in transformed cells expressing constitutively active FGFR1 in culture (PMID: 22238366). 22238366
FGFR1 act mut Advanced Solid Tumor decreased response Cediranib Preclinical Actionable In a preclinical study, transformed cells expressing constitutively active FGFR1 demonstrated reduced sensitivity to inhibition of receptor phosphorylation and cell proliferation by Cediranib (AZD-2171) in culture, when compared to other tyrosine kinase inhibitors (PMID: 22238366). 22238366
FGFR1 act mut breast cancer sensitive FIIN-1 Preclinical Actionable In a preclinical study, FIIN-01 inhibited Fgfr1 activation-induced proliferation and transformation of human breast epithelial cell lines in culture (PMID: 20338520). 20338520
FGFR1 act mut Advanced Solid Tumor decreased response Nintedanib Preclinical Actionable In a preclinical study, transformed cells expressing constitutively active FGFR1 demonstrated reduced sensitivity to Ofev (Nintedanib) in culture, when compared to other tyrosine kinase inhibitors (PMID: 22238366). 22238366
FGFR1 mutant Advanced Solid Tumor sensitive Pemigatinib Preclinical - Cell line xenograft Actionable In a preclinical study, a variety of cancer cell lines harboring mutations in FGFR1, FGFR2, and/or FGFR3 demonstrated sensitivity to Pemazyre (pemigatinib) in culture and in cell line xenograft models, resulting in inhibition of tumor growth (Cancer Res 2015;75(15 Suppl):Abstract nr 771). detail...
FGFR1 mutant Advanced Solid Tumor predicted - sensitive Debio 1347 Phase I Actionable In a Phase I trial, Debio 1347 treatment resulted in partial response in 10.5% (6/57) and stable disease in 28.1% (16/57) of patients with advanced solid tumors harboring genomic alterations of FGFR1/2/3, including amplifications, fusions, and mutations (PMID: 30745300; NCT01948297). 30745300
FGFR1 mutant transitional cell carcinoma predicted - sensitive Erdafitinib Phase II Actionable In a Phase II trial, Balversa (erdafitinib) treatment resulted in an objective response rate of 42% (40/96, 3 complete response, 37 partial response) and a disease control rate of 80% in patients with metastatic or unresectable urothelial carcinoma harboring FGFR alterations (J Clin Oncol 36, 2018 (suppl; abstr 4503); NCT02365597). detail...
ETV6 mutant myelodysplastic syndrome not applicable N/A Clinical Study Prognostic In multiple clinical studies, ETV6 mutations were associated with a shorter overall survival in patients with myelodysplastic syndrome (PMID: 21714648, PMID: 21877899, PMID: 26769228). 21877899 26769228 21714648
ETV6 mutant myelodysplastic syndrome not applicable N/A Guideline Prognostic ETV6 mutations are associated with a poor prognosis in patients with myelodysplastic syndrome (NCCN.org). detail...
FGFR1 fusion Advanced Solid Tumor sensitive Dovitinib Preclinical Actionable In a preclinical study, Dovitinib (TKI258) inhibited Erk, Stat5 signaling and survival of transformed cell lines overexpressing FGFR1 fusion proteins (ZMYM2-FGFR1 or BCR-FGFR1) in culture (PMID: 17698633). 17698633
FGFR1 fusion Advanced Solid Tumor predicted - sensitive Debio 1347 Phase I Actionable In a Phase I trial, Debio 1347 treatment resulted in partial response in 10.5% (6/57) and stable disease in 28.1% (16/57) of patients with advanced solid tumors harboring genomic alterations of FGFR1/2/3, including amplifications, fusions, and mutations (PMID: 30745300; NCT01948297). 30745300
FGFR1 fusion hematologic cancer sensitive Derazantinib Preclinical - Cell culture Actionable In a preclinical study, Derazantinib (ARQ 087) inhibited growth of hematologic cancer cells harboring FGFROP2-FGFR1 fusion in culture (PMID: 27627808). 27627808
FGFR1 fusion acute myeloid leukemia sensitive Dovitinib Preclinical Actionable In a preclinical study, Dovitinib (TKI258) increased apoptosis and inhibited survival of acute myelogenous leukemia cell lines harboring FGFR1OP2-FGFR1 fusion in culture (PMID: 17698633). 17698633
FGFR1 rearrange myeloproliferative neoplasm sensitive Dovitinib Preclinical Actionable In a preclinical study, primary cells from 8p11 myeloproliferative syndrome patients harboring FGFR1 rearrangement were sensitive to Dovitinib (TKI258)-induced growth inhibition in culture (PMID: 17698633). 17698633
FGFR1 rearrange lung small cell carcinoma sensitive AZD4547 Preclinical - Cell culture Actionable In a preclinical study, AZD4547 inhibited survival of small cell lung cancer cells harboring FGFR1 translocation in culture (PMID: 27550940). 27550940
FGFR1 rearrange leukemia sensitive AZD4547 Preclinical - Cell line xenograft Actionable In a preclinical study, AZD4547 inhibited survival of leukemia cells harboring FGFR1 translocation in culture and in cell line xenograft models (PMID: 27550940). 27550940
Molecular Profile Protein Effect Treatment Approaches
ETV6 - FGFR1 gain of function - predicted